behavior/neurological
• as mutants age, about 20% develop a neurologic phenotype characterized by a gait disturbance and limb clenching when picked up by the tail
|
• as mutants age, about 20% develop a neurologic phenotype characterized by a gait disturbance and limb clenching when picked up by the tail
|
• while spontaneous activity is normal under normal feeding conditions and under fasting conditions during the day, mutants show less spontaneous motion, particularly with regards to rearing, under fasting conditions at night
|
• older mutants (9 months of age) but not younger ones (3 months of age) exhibit impairment in ability to run for extended times on an inclined treadmill and perform less work than controls
|
digestive/alimentary system
• stomach epithelium is often dysplastic
• stomach epithelium often forms polyps and has dilated glands filled with Congophilic material
|
• stomach epithelium often forms polyps
|
homeostasis/metabolism
• older mutants (9 months of age) but not younger ones (3 months of age) exhibit impairment in ability to run for extended times on an inclined treadmill and perform less work than controls
|
amyloidosis
(
J:179082
)
• mutants develop amyloid deposits in the stomach (in the lumen of the gastric glands) with age, with 26% having deposits by 6 months of age and 83% having deposits by 24-30 months of age
• however, mutants do not exhibit amyloid deposits in the heart or kidneys
• treatment with doxycycline inhibits amyloid fibril formation
|
nervous system
• mutants exhibit neurons with dystrophic axons in the spinal cord and medulla
|
cardiovascular system
N |
• mutants exhibit normal cardiac function, including normal ejection fraction, fractional shortening, heart rate, and thickness of the interventricular septum and left ventricle size
|
renal/urinary system
N |
• mutants exhibit normal total urinary protein secretion and blood urea nitrogen levels, indicating normal renal function
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
amyloidosis | DOID:9120 | J:179082 |